Target Details

The SPR gene encodes an aldo-keto reductase that catalyzes the NADPH-dependent reduction of pteridine derivatives and is important in the biosynthesis of tetrahydrobiopterin (BH4). Mutations in this gene result in DOPA-responsive dystonia due to sepiapterin reductase deficiency. A pseudogene has been identified on chromosome 1.Synonyms: EC 1.1.1.153, SDR38C1, short chain dehydrogenase/reductase family 38C member 1